Canonical Allele Identifier: CA117320

Gene: TOR1A

Linked Data

• ClinVar Variation Id: 18438
• ClinVar RCV Id: RCV000005491 ; RCV000258917 ; RCV000296896 ; RCV000825647 ; RCV000808573
• dbSNP Id: rs267607134
• ExAC: 9:132581031 A / T
• gnomAD v2: 9-132581031-A-T
• gnomAD v3: 9-129818752-A-T
• gnomAD v4: 9-129818752-A-T
• MyVariant Identifiers: chr9:g.132581031A>T (hg19) ; chr9:g.129818752A>T (hg38)
• PubMed: PMID:19955557 ; PMID:20301665 ; PMID:24930953

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129818752A>T , CM000671.2:g.129818752A>T	GRCh38
NC_000009.11:g.132581031A>T , CM000671.1:g.132581031A>T	GRCh37
NC_000009.10:g.131620852A>T	NCBI36
NG_008049.1:g.10411T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.613T>A MANE Select	ENSP00000345719.4:p.Phe205Ile
ENST00000651202.1:c.709T>A	ENSP00000498222.1:p.Phe237Ile
ENST00000351698.4:c.613T>A	ENSP00000345719.4:p.Phe205Ile
ENST00000473604.2:n.723T>A
ENST00000474192.1:n.30T>A
NM_000113.2:c.613T>A	NP_000104.1:p.Phe205Ile
XR_929731.1:n.773T>A
XR_929731.3:n.641T>A
NM_000113.3:c.613T>A MANE Select	NP_000104.1:p.Phe205Ile